Subject(s)
Ehlers-Danlos Syndrome , Frameshift Mutation , Ion Channels/genetics , Kyphosis , Neuromuscular Diseases , Scoliosis , Child , Ehlers-Danlos Syndrome/genetics , Ehlers-Danlos Syndrome/pathology , Ehlers-Danlos Syndrome/physiopathology , Female , Humans , Kyphosis/genetics , Kyphosis/pathology , Kyphosis/physiopathology , Neuromuscular Diseases/genetics , Neuromuscular Diseases/pathology , Neuromuscular Diseases/physiopathology , Scoliosis/genetics , Scoliosis/pathology , Scoliosis/physiopathologyABSTRACT
A syndrome now known as Ehlers-Danlos, comprising laxity and fragility of the skin associated with hypermobility of the large joints, was published in 1892 by Tschernogobow. Ehlers-Danlos type VIIA is an extremely rare form of the syndrome. While the UK-based Ehlers-Danlos Support Group recommends that the surgical management of patients with Ehlers-Danlos VIIA should be carried out in conjunction with a plastic surgeon, there is nothing in the plastic surgery literature regarding this syndrome. The management of patients suffering from Ehlers-Danlos VIIA is highly complex, as a result of the breadth of genetic and phenotypic presentations, and resulting complications. We present a review of the literature regarding this syndrome and, in particular, the surgical problems that may be encountered. A case report outlining our experience of successfully managing this condition is also presented.